Canonical Allele Identifier: CA374415047

Gene: ELP1

Linked Data

• COSMIC: COSM4432262
• MyVariant Identifiers: chr9:g.111651673C>G (hg19) ; chr9:g.108889393C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108889393C>G , CM000671.2:g.108889393C>G	GRCh38
NC_000009.11:g.111651673C>G , CM000671.1:g.111651673C>G	GRCh37
NC_000009.10:g.110691494C>G	NCBI36
NG_008788.1:g.49936G>C , LRG_251:g.49936G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3161G>C MANE Select	ENSP00000363779.5:p.Gly1054Ala
ENST00000495759.6:c.*1771G>C	ENSP00000433514.2:n.*1771G>C
ENST00000674535.1:c.3161G>C	ENSP00000502142.1:p.Gly1054Ala
ENST00000674704.1:n.6246G>C
ENST00000674836.1:n.3774G>C
ENST00000674890.1:c.*396G>C	ENSP00000501870.1:n.*396G>C
ENST00000674938.1:c.2819G>C	ENSP00000502427.1:p.Gly940Ala
ENST00000674948.1:c.2819G>C	ENSP00000501602.1:p.Gly940Ala
ENST00000675052.1:c.3161G>C	ENSP00000502664.1:p.Gly1054Ala
ENST00000675078.1:c.3161G>C	ENSP00000501549.1:p.Gly1054Ala
ENST00000675215.1:c.*2385G>C	ENSP00000502558.1:n.*2385G>C
ENST00000675233.1:n.4988G>C
ENST00000675321.1:c.3161G>C	ENSP00000502751.1:p.Gly1054Ala
ENST00000675325.1:n.5118G>C
ENST00000675335.1:c.3192G>C	ENSP00000502182.1:n.3192G>C
ENST00000675400.1:n.4896G>C
ENST00000675406.1:c.3161G>C	ENSP00000501893.1:p.Gly1054Ala
ENST00000675458.1:c.3254G>C	ENSP00000501754.1:n.3254G>C
ENST00000675507.1:n.4957G>C
ENST00000675535.1:c.*788G>C	ENSP00000501667.1:n.*788G>C
ENST00000675566.1:n.5019G>C
ENST00000675602.1:n.6209G>C
ENST00000675647.1:n.4325G>C
ENST00000675711.1:c.3161G>C	ENSP00000502485.1:p.Gly1054Ala
ENST00000675727.1:c.3161G>C	ENSP00000501722.1:p.Gly1054Ala
ENST00000675748.1:n.4795G>C
ENST00000675765.1:c.*544G>C	ENSP00000502640.1:n.*544G>C
ENST00000675825.1:c.3161G>C	ENSP00000502632.1:p.Gly1054Ala
ENST00000675877.1:n.3466G>C
ENST00000675893.1:c.*4230G>C	ENSP00000502001.1:n.*4230G>C
ENST00000675943.1:n.6776G>C
ENST00000675979.1:c.*2404G>C	ENSP00000502208.1:n.*2404G>C
ENST00000676044.1:c.*821G>C	ENSP00000502378.1:n.*821G>C
ENST00000676086.1:n.4946G>C
ENST00000676121.1:n.4989G>C
ENST00000676237.1:c.3062G>C	ENSP00000501828.1:p.Gly1021Ala
ENST00000676416.1:c.2819G>C	ENSP00000501660.1:p.Gly940Ala
ENST00000676424.1:n.4957G>C
ENST00000676429.1:n.7630G>C
ENST00000374647.9:c.3161G>C	ENSP00000363779.5:p.Gly1054Ala
ENST00000467959.1:n.41G>C
ENST00000495759.5:c.301G>C
ENST00000537196.1:c.2114G>C	ENSP00000439367.1:p.Gly705Ala
NM_003640.3:c.3161G>C , LRG_251t1:c.3161G>C	NP_003631.2:p.Gly1054Ala
XM_005252285.2:c.2819G>C	XP_005252342.1:p.Gly940Ala
XM_011519136.1:c.3161G>C	XP_011517438.1:p.Gly1054Ala
XM_011519137.1:c.2819G>C	XP_011517439.1:p.Gly940Ala
NM_001318360.1:c.2819G>C	NP_001305289.1:p.Gly940Ala
NM_001330749.1:c.2114G>C	NP_001317678.1:p.Gly705Ala
NM_003640.4:c.3161G>C	NP_003631.2:p.Gly1054Ala
XM_011519136.2:c.3161G>C	XP_011517438.1:p.Gly1054Ala
XR_929859.3:n.3550G>C
NM_003640.5:c.3161G>C MANE Select	NP_003631.2:p.Gly1054Ala
NM_001318360.2:c.2819G>C	NP_001305289.1:p.Gly940Ala
NM_001330749.2:c.2114G>C	NP_001317678.1:p.Gly705Ala